Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: A novel case of P450 oxidoreductase deficiency

L. Williamson, W. Arlt, C. Shackleton, R. I. Kelley, S. R. Braddock

Research output: Contribution to journalArticlepeer-review

Abstract

The Antley-Bixler syndrome (ABS) is a multiple congenital malformation syndrome with craniosynostosis, radiohumeral synostosis, femoral bowing, choanal atresia or stenosis, joint contractures, urogenital abnormalities and, often, early death. Autosomal recessive and dominant inheritance have been postulated, as has fluconazole teratogenesis. Mutations in POR (P450 (cytochrome) oxidoreductase, an essential electron donor to enzymes participating in cholesterol biosynthesis), have been identified in some patients with the ABS phenotype. Recent evidence suggests that these mutations cause attenuated steroid hydroxylation, which in turn, causes congenital adrenal hyperplasia (CAH) with ambiguous genitalia in both sexes and glucocorticoid deficiency. Here, we report on a new patient with findings of both ABS and CAH that further illustrates how low maternal estriol at prenatal screening can serve as a marker steroid facilitating early diagnosis.

Original languageEnglish (US)
Pages (from-to)1797-1803
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume140
Issue number17
DOIs
StatePublished - Sep 1 2006

Keywords

  • Antley-Bixler syndrome
  • Congenital adrenal hyperplasia
  • Maternal serum unconjugated estriol
  • P450 (cytochrome) oxidoreductase
  • Steroidogenesis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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